1,976 results match your criteria Pseudohypoparathyroidism

Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism.

AACE Clin Case Rep 2021 May-Jun;7(3):192-194. Epub 2020 Dec 24.

Department of Pediatric Endocrinology, University of South Alabama, Mobile, Alabama.

Objective: To describe new and unusual endocrinopathies in children with de novo 18q deletion (18q-) syndrome.

Methods: We describe 2 patients who have atypical thyroid conditions and 1 who also developed symptomatic hypocalcemia.

Results: The first patient developed hyperthyroidism at the age of 3 years, with a free thyroxine level of 3. Read More

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December 2020

Skeletal Complications With GNAS Mutation: An Unusual Case With Osteoma Cutis, Gout, and Synovial Chondromatosis in a Patient With Pseudopseudohypoparathyroidism.

AACE Clin Case Rep 2021 May-Jun;7(3):180-183. Epub 2021 Jan 7.

Division of Endocrinology, Diabetes, and Metabolism, Department of Internal Medicine, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California.

Objective: We present a patient with pseudopseudohypoparathyroidism (PPHP) who developed both gout and synovial chondromatosis, in addition to the classical Albright's hereditary osteodystrophy phenotype.

Methods: The patient's clinical course, laboratory data, and imaging are presented.

Results: The patient is a 40-year-old male with no pertinent family history who presented with findings of Albright's hereditary osteodystrophy, including short stature, obesity, rounded face, shortened fourth and fifth digits, and osteoma cutis (heterotopic subcutaneous ossification), which required surgical removal for pain relief. Read More

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January 2021

A novel synonymous variant in exon 1 of gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family.

Bone Rep 2021 Jun 23;14:101073. Epub 2021 Apr 23.

Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, Reference Center of Rare Diseases of Calcium and Phosphorus Metabolism, EA 7450 BioTARGen, Caen, France.

Introduction: Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) (Inactivating PTH/PTHrP Signaling Disorders type 2, IPPSD2) are two rare autosomal disorders caused by loss-of-function mutations on either maternal or paternal allele, respectively, in the imprinted gene, which encodes the α subunit of the ubiquitously-expressed stimulatory G protein (Gαs).

Case Presentation: We investigated a synonymous variant NM_001077488.2: c. Read More

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PTH resistance.

Mol Cell Endocrinol 2021 07 11;531:111311. Epub 2021 May 11.

Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Via Lamarmora 5, 20122, Milan, Italy. Electronic address:

Parathyroid hormone (PTH), which is primarily regulated by extracellular calcium changes, controls calcium and phosphate homeostasis. Different diseases are derived from PTH deficiency (hypoparathyroidism), excess (hyperparathyroidism) and resistance (pseudohypoparathyroidism, PHP). Pseudohypoparathyroidism was historically classified into subtypes according to the presence or not of inherited PTH resistance associated or not with features of Albright's hereditary osteodystrophy and deep and progressive ectopic ossifications. Read More

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Bone turnover markers are associated with the PTH levels in different subtypes of pseudohypoparathyroidism type 1 patients.

Clin Endocrinol (Oxf) 2021 May 7. Epub 2021 May 7.

Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences (CAMS), Beijing, China.

Objective: Bone responsiveness to parathyroid hormone (PTH) in different subtypes of pseudohypoparathyroidism type 1 (PHP1) remains controversial. We aimed to investigate this phenomenon using bone turnover markers (BTMs) in a large cohort of PHP1 patients.

Design: Retrospective study. Read More

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[Osteoma cutis: The importance of early diagnosis in pseudohypoparathyroidism].

An Pediatr (Engl Ed) 2021 Apr 21. Epub 2021 Apr 21.

Servicio de Pediatría, Unidad de Endocrinología Infantil, Hospital Universitario Son Espases, Palma de Mallorca, Islas Baleares, España.

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Snow White and the Seven Dwarfs: a fairytale for endocrinologists.

Endocr Connect 2021 May 19;10(5):R189-R199. Epub 2021 May 19.

Endocrine Unit, Athens Medical Centre, Athens, Greece.

'Snow White and the Seven Dwarfs', a fairytale that is widely known across the Western world, was originally written by the Brothers Grimm, and published in 1812 as 'Snow White'. Though each dwarf was first given an individual name in the 1912 Broadway play, in Walt Disney's 1937 film 'Snow White and the Seven Dwarfs', they were renamed, and the dwarfs have become household names. It is well known that myths, fables, and fairytales, though appearing to be merely children's tales about fictional magical beings and places, have, more often than not, originated from real facts. Read More

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Slipped Capital Femoral Epiphysis as a Presentation of Underlying Metabolic Disorders: Pseudohypoparathyroidism and Juvenile Hypothyroidism.

Cureus 2021 Mar 9;13(3):e13775. Epub 2021 Mar 9.

Department of Radiology, Wilford Hall Ambulatory Medical Center, San Antonio, USA.

Slipped capital femoral epiphysis (SCFE) is an abnormality of the proximal femoral physis typically occurring in adolescents and most commonly associated with obesity, although its exact etiology is unknown. In addition to obesity, other associations and predisposing factors proposed in the literature include trauma, vascular injury or compromise, and immunologic, genetic, and metabolic conditions. While not common, metabolic conditions are known to predispose to SCFE and it is essential for radiologists to recognize SCFE as a possible initial presentation of an underlying metabolic disorder. Read More

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Coexistence of dyschondrosteosis associated to deficiency, pseudohypoparathyroidism 1B, and chronic autoimmune thyroiditis: a case report.

J Pediatr Endocrinol Metab 2021 Apr 16;34(4):531-534. Epub 2020 Dec 16.

Department of Pediatrics, Hospital Universitario Quironsalud, Madrid, Spain.

We present an unusual case of deficiency associated with Léri-Weill dyschondrosteosis (LWD), Hashimoto's thyroiditis and pseudohypoparathyroidism 1B in a young woman. To our knowledge, this is the first ever report of these disorders coexisting. At the age of nine years, the proband was diagnosed of hypothyroidism due to Hashimoto's thyroiditis, and developed biochemical abnormalities consistent with hyperphosphatemia, mild hypocalcemia and elevated parathyroid hormone without any clinical symptoms except short stature. Read More

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Pseudohypoparathyroidism: focus on cerebral and renal calcifications.

J Clin Endocrinol Metab 2021 Mar 29. Epub 2021 Mar 29.

University Hospital of Pisa, Endocrine Unit 2, Pisa, Italy.

Context: Pseudohypoparathyroidism (PHP) is a group of disorders characterized by hypocalcemia, hyperphosphatemia and elevated PTH levels, as a result of end-organ resistance to PTH.

Objective: To describe a cohort of 26 patients with PHP, followed in a single tertiary center.

Design: Clinical, biochemical, radiological and genetic analysis of the GNAS gene were collected in 26 patients recruited since 2002. Read More

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Intracranial calcifications in pseudohypoparathyroidism type 1b: Report of four cases.

Endocrinol Diabetes Nutr (Engl Ed) 2021 Mar 23. Epub 2021 Mar 23.

Endocrinology and Nutrition Department, La Paz University Hospital, Madrid, Spain; Department of Medicine, Autonomous University of Madrid (UAM), Madrid, Spain; Endocrine Diseases Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.

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Pseudohypoparathyroidism Type 1A with Normocalcaemia, due to the Novel C.389A>G Variant of Exon 5 of the Guanine Nucleotide-Binding Protein, α-Stimulating Gene.

J Bone Metab 2021 Feb 28;28(1):85-89. Epub 2021 Feb 28.

Unit of Paediatric Endocrinology and Metabolism, Second Department of Paediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University General Hospital, Thessaloniki, Greece.

Pseudohypoparathyroidism type 1A (PHP1A) is a rare disease caused by molecular defects in the maternally-inherited allele of the guanine nucleotide-binding protein, α-stimulating (GNAS) gene. The GNAS gene encodes the stimulatory G-protein α-subunit that regulates production of the second messenger cyclic adenosine monophosphate. Heterozygous inactivating mutations in these specific loci are responsible for a spectrum of phenotypic characteristics of the disease, including clinical features of the Albright's hereditary osteodystrophy, due to resistance to parathyroid hormone (PTH). Read More

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February 2021

A novel familial PHP1B variant with incomplete loss-of-methylation at GNAS-A/B and enhanced methylation at GNAS-AS2.

J Clin Endocrinol Metab 2021 Mar 2. Epub 2021 Mar 2.

Université Paris-Saclay, Inserm, Physiologie et physiopathologie endocrinienne, Le Kremlin-Bicêtre, France.

Context: Pseudohypoparathyroidism type 1B (PHP1B), also referred to as inactivating PTH/PTHrP Signaling Disorder (iPPSD), is characterized by proximal renal tubular resistance to parathyroid hormone (PTH) leading to hypocalcemia, hyperphosphatemia and elevated PTH values. Autosomal dominant PHP1B (AD-PHP1B) with loss-of-methylation at the maternal GNAS A/B:TSS-DMR (transcription start site-differentially methylated region) alone can be caused by maternal deletions involving STX16.

Objectives: Characterize a previously not reported AD-PHP1B family with loss-of-methylation at GNAS A/B:TSS-DMR, but without evidence for a STX16 deletion on the maternal allele and assess GNAS-AS2:TSS-DMR methylation. Read More

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Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up.

Ital J Pediatr 2021 Mar 4;47(1):48. Epub 2021 Mar 4.

Department of Pediatric Endocrinology, Regina Margherita Children's Hospital - Health and Science City, Turin, Italy.

Background: Pseudohypoparathyroidism (PHP) represents a heterogeneous group of rare endocrine disorders caused by (epi) genetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH, and by peculiar clinical features such as short stature, obesity, cognitive impairment, subcutaneous ossifications and brachydactyly. Delayed puberty, GHRH and calcitonin resistances have also been described. Read More

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Symptomatic spinal cord compression: an uncommon symptom in pseudohypoparathyroidism.

Ann N Y Acad Sci 2021 Mar 4. Epub 2021 Mar 4.

Department of Endocrinology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, PR China.

We describe symptomatic spinal cord compression associated with pseudohypoparathyroidism (PHP) in a young female patient and reviewed similar cases previously reported in the literature. The characteristics of these cases were analyzed from etiology, clinical subtypes, symptoms, treatment, and prognosis. Neurological examination revealed functional upper extremities with bilateral lower extremity paraplegia. Read More

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[Pseudohypoparathyroidism and GNAS gene defects: clinical evaluation and molecular analysis in 20 children].

Zhonghua Er Ke Za Zhi 2021 Mar;59(3):206-211

Department of Endocrinology, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.

To analyze the patients' clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and genotypes. Twenty PHP patients were ascertained at Children's Hospital Zhejiang University School of Medicine from January 2011 to July 2020. Clinical manifestation, laboratory examination and gene test results were retrospectively analyzed. Read More

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Canadian national hypoparathyroidism registry: an overview of hypoparathyroidism in Canada.

Endocrine 2021 May 2;72(2):553-561. Epub 2021 Mar 2.

McMaster University, Hamilton, ON, Canada.

Purpose: To evaluate the epidemiology, presentation and management of hypoparathyroidism in Canada. Hypoparathyroidism is associated with significant morbidity and poor quality of life. We present baseline results from the Canadian National Hypoparathyroidism Registry, a prospective observational study evaluating hypoparathyroidism in Canada. Read More

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Bilateral Transcervical Femur Neck Fracture in a Case of Pseudohypoparathyroidism: A Rare Case Report and Review of Literature.

J Orthop Case Rep 2020 Oct;10(7):85-87

Department of Orthopedics, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.

Introduction: Pseudohypoparathyroidism (PHP) is an uncommon metabolic bone disorder characterized by biochemical hypocalcemia, hyperphosphatemia and raised parathyroid hormone (PTH), and target tissue unresponsiveness to the biological actions of PTH. In addition, many patients with PHP exhibit a distinctive constellation of developmental and skeletal defects.

Case Report: An 11-year-old girl was brought to emergency pediatric department for the assessment of fever with generalized tonic-clonic seizure (GTCS) with inability to walk. Read More

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October 2020

Lower Leg Arterial Calcifications Assessed by High-Resolution Peripheral Quantitative Computed Tomography in Hypoparathyroid and Pseudohypoparathyroid Patients.

Calcif Tissue Int 2021 06 12;108(6):775-784. Epub 2021 Feb 12.

Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.

Hypoparathyroidism (HypoPT) and pseudohypoparathyroidism (PHP) are diseases with abnormal calcium and phosphate homeostasis and low and high PTH levels, respectively. It has been hypothesized that this could dispose to vascular calcifications and thereby perhaps also cardiovascular morbidity. The aim of this study was to assess lower leg arterial calcifications (LLAC) in patients with HypoPT or PHP. Read More

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Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case.

J Pediatr Genet 2021 Mar 12;10(1):45-48. Epub 2020 Feb 12.

Department of Internal Medicine, Clinical Genetics, UFCSPA and Irmandade Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, Brazil.

Ectopic calcification in soft tissue is associated with several disorders including pseudohypoparathyroidism (PHP), which is characterized by resistance or nonresponse to parathyroid hormone (PTH) function. Association between PHP and 22q11DS, also known as DiGeorge syndrome, is rare, especially in children. We describe a newborn girl diagnosed with 22q11DS, presenting ectopic calcifications in soft tissue and suspicion of PHP. Read More

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Atypical Noninfectious Surgically Induced Necrotizing Scleritis in a Child.

Ocul Immunol Inflamm 2021 Feb 5:1-3. Epub 2021 Feb 5.

Moorfields Eye Hospital, United Arab Emirates.

Surgically induced necrotizing scleritis (SINS) is recognized as a rare and vision-threatening complication of ocular surgery. In adults, it has been mostly described after multiple ocular surgical procedures such as pterygium excision, glaucoma, and retinal detachment in the same eye. SINS is relatively less likely with single ocular surgery. Read More

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February 2021

Fahr's syndrome due to hypoparathyroidism revisited: A case of parkinsonism and a review of all published cases.

Clin Neurol Neurosurg 2021 Mar 22;202:106514. Epub 2021 Jan 22.

Department of Neurology, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.

Introduction: Fahr's syndrome due to hypoparathyroidism refers to bilateral basal ganglia (BG) calcifications and manifests with movement disorders, seizures, cognitive and behavioral symptoms.

Case Presentation: We report a case of a 74-year-old woman, who presented with parkinsonism due to post-surgical hypoparathyroidism and normal DaT scan, despite extensive calcifications of the BG, periventricular white matter, and cerebellum.

Methods: A comprehensive literature review of all reported cases of Fahr's syndrome due to hypoparathyroidism was conducted in the electronic databases PubMed and Web of science. Read More

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Molecular Definition of Pseudohypoparathyroidism Variants.

Harald Jüppner

J Clin Endocrinol Metab 2021 May;106(6):1541-1552

Endocrine Unit, Department of Medicine and Pediatric Nephrology Unit, Department of Pediatrics, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several differentially methylated regions (DMRs). GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Read More

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Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.

Genes (Basel) 2021 Jan 27;12(2). Epub 2021 Jan 27.

Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

Epigenetic alterations at imprinted genes on different chromosomes have been linked to several imprinting disorders (IDs) such as Beckwith-Wiedemann syndrome (BWS) and pseudohypoparathyroidism type 1b (PHP1b). Here, we present a male patient with these two distinct IDs caused by two independent mechanisms-loss of methylation (LOM) at chromosome 11p15.5 associated with multi-locus imprinting disturbances (MLID and paternal uniparental disomy of chromosome 20 (patUPD20). Read More

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January 2021

Genetic and Epigenetic Characteristics of Autosomal Dominant Pseudohypoparathyroidism Type 1B: Case Reports and Literature Review.

Horm Metab Res 2021 Apr 29;53(4):225-235. Epub 2021 Jan 29.

Department of Endocrinology and Metabolism, Shandong University, Jinan, Shandong, China.

Autosomal dominant pseudohypoparathyroidism 1B (AD-PHP1B) is a rare endocrine and imprinted disorder. The objective of this study is to clarify the imprinted regulation of the guanine nucleotide binding-protein α-stimulating activity polypeptide 1 (GNAS) cluster in the occurrence and development of AD-PHP1B based on animal and clinical patient studies. The methylation-specific multiples ligation-dependent probe amplification (MS-MLPA) was conducted to detect the copy number variation in syntaxin-16 (STX16) gene and methylation status of the GNAS differentially methylated regions (DMRs). Read More

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A novel GNAS mutation in pseudohypoparathyroidism type 1a in a Chinese man presented with recurrent seizure: a case report.

BMC Endocr Disord 2021 Jan 9;21(1):12. Epub 2021 Jan 9.

Department of Endocrinology, Peking University First Hospital, Beijing, China.

Background: Pseudohypoparathyroidism is a rare genetic disease characterized by hypocalcaemia and hyperphosphataemia due to the defect to the guanine nucleotide-binding protein alpha subunit (GNAS) gene. Patients with pseudoparathyroidism type 1a and 1c could manifest Albright's hereditary osteodystrophy and multiple hormone resistance including gonadotropin and thyroid stimulating hormone.

Case Presentation: Here we report a Chinese man who presented with fatigue, recurrent seizure and Albright's hereditary osteodystrophy. Read More

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January 2021

Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.

Calcif Tissue Int 2021 05 2;108(5):576-586. Epub 2021 Jan 2.

Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.

Vitamin D-dependent rickets type IA (VDDR-IA) is caused by biallelic mutations in CYP27B1. Data regarding genotype-phenotype correlation in VDDR-IA are scarce. Here, we aimed to investigate clinical/genotypic features and long-term follow-up of 13 new cases with VDDR-IA and genotype-phenotype correlation of reported cases in the literature. Read More

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An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.

Arch Endocrinol Metab 2020 Dec 15. Epub 2020 Dec 15.

Departamento de Endocrinologia e Nutrição, Centro Hospitalar de Vila Nova de Gaia/Espinho (CHVNG/E), Vila Nova de Gaia, Portugal.

Pseudohypoparathyroidism comprehends an assorted group of genetically rare disorders that share end-organ resistance to parathyroid hormone. Genetic and epigenetic modifications on guanine nucleotide-binding protein alpha-stimulating gene locus are the most common underlying mechanisms associated with pseudohypoparathyroidism. Biochemical and molecular analysis stratify pseudohypoparathyroidism into types 1A, 1B, 1C, and 2. Read More

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December 2020

Osteoma Cutis and Calcinosis Cutis: "Similar but Different".

J Clin Aesthet Dermatol 2020 Nov 1;13(11):28-31. Epub 2020 Nov 1.

Drs. Niebel, Poortinga, and Wenzel are with the Department of Dermatology and Allergy, University Hospital Bonn at Bonn University in Bonn, Germany.

The development of calcium salt deposits in the skin can occur in the presence or absence of membranous ossification and are categorized into osteoma cutis (i.e., cutaneous osteoma) and calcinosis cutis. Read More

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November 2020

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.

Eur J Endocrinol 2021 Feb;184(2):311-320

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy.

Objective: Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptoms including resistance to PTH and/or to other hormones, ectopic ossifications, brachydactyly type E, early onset obesity, short stature and cognitive difficulties. Several years ago we proposed a novel nomenclature under the term of inactivating PTH/PTHrP signaling disorders (iPPSD). Read More

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February 2021